A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983244



Internal ID12975046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143885456..144038174hg38UCSC Ensembl
Innerchr4:144806609..144959327hg19UCSC Ensembl
Innerchr4:145026059..145178777hg18UCSC Ensembl
Innerchr4:145164214..145316932hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38152719
hg19152719
hg18152719
hg17152719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752028
Supporting Variants
SamplesBEC_558
Known GenesGYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983244
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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